作者: Carl W. Miller , Abdulkarim Aslo , Alvina Won , Michael Tan , Beatrice Lampkin
DOI: 10.1007/BF01213553
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摘要: Molecular defects affecting tumor-suppressor genes are an important step in the genesis of sarcomas. For example, inheritance a defectiveRb orp53 gene predisposes carrier to develop osteosarcoma, among other malignancies. In this study, we have assessed occurrence ofp53, Rb andMDM2 alterations same samples osteosarcomas, along with representative various Point mutations thep53 were found 13 42 osteosarcomas and 1 8 leiomyosarcomas, gross rearrangement was demonstrated 5 37 osteosarcomas. The retinoblastoma susceptibility (Rb) either rearranged or deleted 7 soft-tissue sarcomas 4 Ewing Remarkably, havingRb also hadp53 mutations. Amplification overexpression theMDM2 oncogene may lead increasedMDM2-p53 binding resulting inactivation ofp53 function. A two- threefold increase copy number ofMDM2 detected samples, which occurred independently mutation; one sample having amplification had ap53 mutation. summary, 34 thep53, 26 (62%)